Variant report

Variant	rs147983356
Chromosome Location	chr9:86237687-86237688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:86237425-86238660	HEK293	kidney:	n/a	n/a
2	REST	chr9:86237616-86238804	HL-60	blood:	n/a	n/a
3	YY1	chr9:86237670-86237876	K562	blood:	n/a	n/a
4	POLR2A	chr9:86237678-86238825	K562	blood:	n/a	n/a
5	SIN3A	chr9:86237663-86238542	GM12878	blood:	n/a	chr9:86238495-86238506
6	POLR2A	chr9:86237659-86238855	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:86237574-86238276	U87	brain:	n/a	n/a
8	ELF1	chr9:86237589-86238226	HepG2	liver:	n/a	chr9:86238187-86238199
9	ZBTB7A	chr9:86237646-86238504	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr9:86237625-86238817	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:86237627-86239010	HL-60	blood:	n/a	n/a
12	POLR2A	chr9:86237612-86239036	GM12878	blood:	n/a	n/a
13	REST	chr9:86237463-86238808	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr9:86237510-86238241	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr9:86237594-86238715	U87	brain:	n/a	n/a
16	POLR2A	chr9:86237506-86239610	K562	blood:	n/a	n/a
17	MAX	chr9:86237629-86238757	SK-N-SH	brain:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
18	POLR2A	chr9:86237612-86238972	GM12891	blood:	n/a	n/a
19	POLR2A	chr9:86237575-86238928	MCF-7	breast:	n/a	n/a
20	CTCF	chr9:86237580-86237730	GM06990	blood:	n/a	n/a
21	MAX	chr9:86237659-86238182	K562	blood:	n/a	chr9:86238149-86238159
22	ELF1	chr9:86237469-86238344	MCF-7	breast:	n/a	chr9:86238187-86238199
23	HEY1	chr9:86237487-86239513	HepG2	liver:	n/a	chr9:86238182-86238197
24	MAX	chr9:86237415-86238860	GM12878	blood:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
25	POLR2A	chr9:86237664-86238905	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr9:86237597-86238956	PBDE	blood:	n/a	n/a
27	POLR2A	chr9:86237572-86238910	GM19193	blood:	n/a	n/a
28	TCF3	chr9:86237657-86237850	GM12878	blood:	n/a	chr9:86237772-86237782
29	NR2F2	chr9:86237627-86238670	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:86237435-86238593	PFSK-1	brain:	n/a	n/a
31	MXI1	chr9:86237210-86239680	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr9:86237332-86239656	GM12878	blood:	n/a	n/a
33	MAX	chr9:86237574-86238735	MCF-7	breast:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
34	MTA3	chr9:86237258-86239313	GM12878	blood:	n/a	n/a
35	TAF1	chr9:86237601-86238757	H1-hESC	embryonic stem cell:	n/a	n/a
36	PML	chr9:86237641-86238946	MCF-7	breast:	n/a	n/a
37	MXI1	chr9:86237486-86238706	GM12878	blood:	n/a	n/a
38	ELF1	chr9:86237597-86238573	K562	blood:	n/a	chr9:86238187-86238199
39	MAX	chr9:86237640-86238773	ECC-1	luminal epithelium:	n/a	chr9:86238645-86238654 chr9:86238149-86238159
40	NFIC	chr9:86237448-86238022	GM12878	blood:	n/a	n/a
41	POLR2A	chr9:86237607-86238600	HCT-116	colon:	n/a	n/a
42	POLR2A	chr9:86237574-86239507	GM18526	blood:	n/a	n/a
43	POLR2A	chr9:86237649-86238947	K562	blood:	n/a	n/a
44	POLR2A	chr9:86237405-86238973	K562	blood:	n/a	n/a
45	POLR2A	chr9:86237574-86239652	HepG2	liver:	n/a	n/a
46	POLR2A	chr9:86237679-86238589	A549	lung:	n/a	n/a
47	POLR2A	chr9:86237624-86238237	HepG2	liver:	n/a	n/a
48	HCFC1	chr9:86237430-86238777	K562	blood:	n/a	n/a
49	ELF1	chr9:86237643-86238270	K562	blood:	n/a	chr9:86238187-86238199
50	WRNIP1	chr9:86237452-86237691	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:86237285..86238795-chr9:86535469..86537545,2	K562	blood:
2	chr9:86236918..86239524-chr9:86322198..86323756,2	K562	blood:
3	chr9:86237271..86239294-chr9:86534482..86537409,3	MCF-7	breast:
4	chr6:151712214..151713783-chr9:86237532..86239422,2	MCF-7	breast:
5	chr9:86237033..86239481-chr9:86571525..86573399,2	MCF-7	breast:
6	chr16:73080234..73082394-chr9:86236447..86238062,2	MCF-7	breast:
7	chr9:86236280..86241962-chr9:86320992..86325340,9	MCF-7	breast:
8	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:

Variant related genes	Relation type
IDNK	TF binding region
ENSG00000181472	Chromatin interaction
ENSG00000165115	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000140836	Chromatin interaction
ENSG00000135018	Chromatin interaction
ENSG00000165118	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv516587	chr9:86226119-86255765	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv3410885	chr9:86236957-86239705	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86237200-86237800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr9:86237200-86237800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:86237200-86237800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr9:86237200-86238000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:86237200-86238400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:86237200-86238600	Active TSS	HSMM	muscle
7	chr9:86237200-86238600	Active TSS	NHDF-Ad	bronchial
8	chr9:86237200-86238600	Active TSS	Osteobl	bone
9	chr9:86237200-86238800	Active TSS	GM12878-XiMat	blood
10	chr9:86237200-86239000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:86237200-86239200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:86237400-86237800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:86237400-86237800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr9:86237400-86237800	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr9:86237400-86237800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr9:86237400-86237800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr9:86237400-86237800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr9:86237400-86237800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:86237400-86237800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr9:86237400-86237800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:86237400-86237800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr9:86237400-86237800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr9:86237400-86237800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr9:86237400-86237800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:86237400-86237800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:86237400-86237800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr9:86237400-86237800	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr9:86237400-86237800	Flanking Active TSS	Fetal Thymus	thymus
29	chr9:86237400-86237800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:86237400-86237800	Flanking Active TSS	HUVEC	blood vessel
31	chr9:86237400-86237800	Flanking Active TSS	NHEK	skin
32	chr9:86237400-86238000	Enhancers	Fetal Brain Male	brain
33	chr9:86237400-86238000	Enhancers	Fetal Heart	heart
34	chr9:86237400-86238400	Active TSS	HMEC	breast
35	chr9:86237400-86238400	Active TSS	NH-A	brain
36	chr9:86237400-86238600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr9:86237400-86238600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:86237400-86238600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:86237400-86238600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:86237400-86238600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr9:86237400-86238600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:86237400-86238600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr9:86237400-86238600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:86237400-86238600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:86237400-86238600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:86237400-86238600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr9:86237400-86238600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr9:86237400-86238600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:86237400-86238600	Active TSS	Colon Smooth Muscle	Colon
50	chr9:86237400-86238600	Active TSS	Duodenum Smooth Muscle	Duodenum

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